Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893983
rs104893983
CYP21A2 ; NEU1
0.882 0.160 6 31860510 missense variant C/T snv 8.0E-06
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.710 1.000 1 1996 2014
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
0.882 0.160 6 31861259 missense variant T/C;G snv 1.1E-04
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.710 1.000 1 2000 2018
dbSNP: rs104893978
rs104893978
CYP21A2 ; NEU1
0.925 0.160 6 31860519 missense variant A/G snv 1.4E-05
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2 		0.010 1.000 1 2002 2002
dbSNP: rs104893983
rs104893983
CYP21A2 ; NEU1
0.882 0.160 6 31860510 missense variant C/T snv 8.0E-06
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		0.010 1.000 1 2010 2010
dbSNP: rs104893985
rs104893985
CYP21A2 ; NEU1
0.925 0.160 6 31862112 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2 		0.010 1.000 1 2002 2002
dbSNP: rs193922915
rs193922915
NEU1
0.925 0.160 6 31859879 missense variant A/G snv 7.0E-06
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		0.010 1.000 1 2001 2001
dbSNP: rs28940583
rs28940583
CYP21A2 ; NEU1
0.882 0.160 6 31860588 missense variant C/T snv 5.6E-05 1.7E-04
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		0.010 1.000 1 2010 2010
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
0.882 0.160 6 31861259 missense variant T/C;G snv 1.1E-04
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		0.010 1.000 1 2018 2018